Adolescence/adult onset MTHFR deficiency may manifest as isolated and treatable distinct neuro-psychiatric syndromes

Adolescence/adult onset MTHFR deficiency may manifest as isolated and treatable distinct neuro-psychiatric syndromes

Abstract 5,10-Methylene-tetrahydrofolate reductase (MTHFR) deficiency is a genetic disorder that can occur at any age and can be easily detected by increased homocysteinemia. In adolescence/adult onset forms, the clinical picture is often complex with association of various neurological features and...

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Bibliographic Details
Main Authors: Ana Gales, Marion Masingue, Stephanie Millecamps, Stephane Giraudier, Laure Grosliere, Claude Adam, Claudio Salim, Vincent Navarro, Yann Nadjar
Format: Article
Language:English
Published: BMC 2018-02-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Metabolic disease
Clinical neurology examination
All epilepsy/seizures
Gait disorders/ataxia
MRI
Online Access:http://link.springer.com/article/10.1186/s13023-018-0767-9

Internet

http://link.springer.com/article/10.1186/s13023-018-0767-9

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